Overview

5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT), which is critical for male sexual development. Most are born with external genitalia that appear female. In other cases, affected individuals may have ambiguous genitalia. Others may have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). This condition is caused by mutations in the SRD5A2 gene and is inherited in an autosomal recessive pattern.[1]

On this page

Basic Information

Genetics Home Reference (GHR) contains information on 5-alpha reductase deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.OrphanetOrphanet

PubMed is a searchable database of medical literature and lists journal articles that discuss 5-alpha reductase deficiency. Click on the link to view a sample search on this topic.

Other Names for this Disease

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency